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MIRAGE
calcium voltage-gated channel subunit alpha1 A
Summary
- Gene Symbol
-
- CACNA1A
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Calcium channel
- Cell membrane
- Coiled coil
- Disease variant
- Disulfide bond
- Epilepsy
- Glycoprotein
- Metal-binding
- Phosphoprotein
- Proteomics identification
- Reference proteome
- Repeat
- Spinocerebellar ataxia
- Transmembrane helix
- Triplet repeat expansion
- Voltage-gated channel
- Proteins
| UniProt | Protein Name |
|---|---|
| A0A087WW63 |
|
| B5TYJ1 |
|
| Q9NS89 |
|
| O00555 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| calcium ion transport |
|
|
| positive regulation of cytosolic calcium ion concentration | ||
| chemical synaptic transmission | ||
| cell death |
|
|
| modulation of chemical synaptic transmission |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| nucleus | ||
| cytoplasm | ||
| plasma membrane | ||
| plasma membrane | ||
| voltage-gated calcium channel complex |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| amyloid-beta binding | ||
| voltage-gated calcium channel activity | ||
| voltage-gated calcium channel activity | ||
| calcium ion binding |
|
|
| protein binding |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- voltage-dependent N-type calcium channel subunit alpha-1B
- Functional Category
-
- E: Amino acid transport and metabolism
- P: Inorganic ion transport and metabolism
- T: Signal transduction mechanisms
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050956 | spinocerebellar ataxia type 6 | |
| DOID:0050990 | episodic ataxia type 2 | |
| DOID:0080454 | developmental and epileptic encephalopathy 42 | |
| DOID:0111181 | familial hemiplegic migraine 1 | |
| DOID:10024 | migraine with aura | |
| DOID:6364 | migraine |
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 773 | Xenbase:XB-GENE-1013831 | ||
| 774 | SGD:S000003449 | ||
| 775 | SGD:S000003449 | ||
| 776 | SGD:S000003449 | ||
| 777 | SGD:S000003449 | ||
| 778 | SGD:S000003449 | ||
| 779 | SGD:S000003449 | ||
| 6323 | SGD:S000003449 | ||
| 6326 | SGD:S000003449 | ||
| 6328 | SGD:S000003449 |
